Inherited thrombophilic conditions

Since 1965, when antithrombin deficiency was identified as the first congenital defect of hemostasis able to increase the risk of thrombosis, we have assisted in a substantial evolution of thrombophilia. From the original monogenic view, it has been demonstrated that thrombosis is a polygenic and complex disorder that involves potentially hundreds of polymorphisms and rare mutations, as well as multiple acquired and triggering factors. From the enthusiasm of searching prothrombotic polymorphisms that might contribute to the risk of each individual to have a thrombotic episode, to the frustration of considering that thrombophilic tests might have no clinical relevance. Also the methods used in thrombophilic analysis have significantly changed from original simple analysis to recent and complex technological approaches. It is time to analyze carefully, without any pressure, the real state of the art and to moderate the conclusions, separating clinical use and research of inherited thrombophilic conditions.     

A successful emergency thoracotomy performed in the field

An emergency thoracotomy (ET) is a surgical procedure rarely practiced outside a hospital. However, it can be the only way to resuscitate a patient who has suffered cardiac arrest due to penetrating chest trauma. SAMUR-Protección Civil is a two-tier Emergency Medical Service of Madrid, with Advance Life Support teams led by Emergency Physicians, Emergency Nurses and Paramedics. Over the last 3 years, medical teams from SAMUR have performed ET in six cases, after a short period of cardiac arrest, restoring cardiac output in two cases, and one patient with a normal neurological outcome. The following SAMUR protocol describes these emergency situations and details the case of the patient who was treated and discharged from hospital without any repercussions.     

COVID‐19 in Spain: Transplantation in the midst of the pandemic

Spain has been one of the most affected countries by the COVID‐19 outbreak. As of April 28, 2020, the number of confirmed cases is 210 773, including 102 548 patients recovered, more than 10 300 admitted to the ICU, and 23 822 deaths, with a global case fatality rate of 11.3%. From the perspective of donation and transplantation, the Spanish system first focused on safety issues, providing recommendations for donor evaluation and testing, and to rule out SARS‐CoV‐2 infection in potential recipients prior to transplantation. Since the country entered into an epidemiological scenario of sustained community transmission and saturation of intensive care, developing donation and transplantation procedures has become highly complex. Since the national state of alarm was declared in Spain on March 13, 2020, the mean number of donors has declined from 7.2 to 1.2 per day, and the mean number of transplants from 16.1 to 2.1 per day. Increased mortality on the waiting list may become a collateral damage of this terrible pandemic.     

Indinavir plasma concentrations and resistance mutations in patients experiencing early virological failure

Virological failure under protease inhibitor (PI)-based antiretroviral regimens is often not explained by the selection of resistance mutations. The role of low indinavir (IDV) plasma levels in treatment failure was assessed in 46 subjects experiencing early virological failure to a first-line IDV-containing triple combination. Overall, 69% of patients showed subtherapeutic IDV plasma levels (it was not detected at all in 75% of them). Subjects with detectable but suboptimal IDV levels developed more IDV resistance mutations. Thus, drug monitoring may be useful to assess treatment adherence and risk of drug resistance in early virological failures. This information may be crucial for choosing the most appropriate rescue intervention.     

p 53 gene rearrangements in chronic myelocytic leukemia

Summary We performed Southern-blot analysis of the p 53 gene in 41 consecutive patients with typical chronic myelocytic leukemia (CML). In two of them, we were able to study cells during both the chronic and the accelerated phases. Only one of the 29 chronic-phase samples had rearrangement of the p 53 gene, whereas three of the nine accelerated-phase samples and one of the five patients in blast crisis exhibited rearrangements. Gene deletion was observed in two patients, one in accelerated phase and the other in blast crisis. One patient with a nonrearranged p 53 gene in chronic phase showed rearrangement after progression to the accelerated phase. On the other hand, one patient in accelerated phase exhibited rearrangements which disappeared after reversion to chronic phase with successful treatment. Our findings support the opinion that alterations of the p 53 gene may play an important role in CML evolution.